Variant report

Variant	rs8101472
Chromosome Location	chr19:36450611-36450612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr19:36450451-36451145	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:36450512-36450847	K562	blood:	n/a	chr19:36450837-36450846
3	CTCF	chr19:36450505-36450945	K562	blood:	n/a	chr19:36450837-36450846
4	MAX	chr19:36450007-36450909	H1-hESC	embryonic stem cell:	n/a	chr19:36450174-36450183

Variant related genes	Relation type
ENSG00000267113	TF binding region
ENSG00000267388	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11878547	1.00[CEU][hapmap]
rs16960862	1.00[CEU][hapmap]
rs1802029	1.00[CEU][hapmap]
rs3761086	1.00[CEU][hapmap]
rs45527839	1.00[EUR][1000 genomes]
rs45605832	1.00[EUR][1000 genomes]
rs7245383	1.00[CEU][hapmap]
rs7247769	1.00[CEU][hapmap]
rs7254113	1.00[CEU][hapmap]
rs7256952	1.00[CEU][hapmap]
rs7260297	1.00[EUR][1000 genomes]
rs8103718	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs8106480	1.00[CEU][hapmap]
rs8106495	1.00[CEU][hapmap]
rs8110231	1.00[CEU][hapmap]
rs8113524	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv960830	chr19:36447942-36451207	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36449000-36451000	Bivalent Enhancer	Placenta	Placenta
2	chr19:36449400-36451000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr19:36449400-36451200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr19:36449600-36450800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
5	chr19:36449600-36451000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr19:36449600-36451000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:36449800-36450800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:36449800-36450800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:36449800-36450800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:36449800-36450800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:36449800-36450800	Bivalent/Poised TSS	Thymus	Thymus
12	chr19:36449800-36451000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr19:36449800-36451000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:36449800-36451200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:36450000-36450800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr19:36450000-36450800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:36450000-36450800	Bivalent Enhancer	Lung	lung
18	chr19:36450000-36450800	Enhancers	Pancreas	Pancrea
19	chr19:36450000-36451000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr19:36450000-36451000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:36450000-36451000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr19:36450000-36451000	Enhancers	Gastric	stomach
23	chr19:36450000-36451200	ZNF genes & repeats	Spleen	Spleen
24	chr19:36450200-36450800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:36450200-36451000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:36450400-36450800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr19:36450400-36450800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr19:36450400-36450800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr19:36450400-36450800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr19:36450400-36450800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:36450400-36450800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:36450400-36450800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
33	chr19:36450400-36450800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr19:36450400-36451000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:36450400-36451000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:36450400-36451000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
37	chr19:36450400-36451000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
38	chr19:36450400-36451000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr19:36450400-36451200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr19:36450400-36451200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr19:36450400-36451200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr19:36450400-36451200	Bivalent Enhancer	HMEC	breast
43	chr19:36450600-36450800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
44	chr19:36450600-36450800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:36450600-36450800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:36450600-36450800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
47	chr19:36450600-36450800	Bivalent Enhancer	Brain Hippocampus Middle	brain
48	chr19:36450600-36450800	Bivalent/Poised TSS	Colonic Mucosa	Colon
49	chr19:36450600-36450800	Bivalent Enhancer	GM12878-XiMat	blood
50	chr19:36450600-36451000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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